ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2645C>A (p.Ala882Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004602543 SCV005101083 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-26 criteria provided, single submitter clinical testing The p.A882D variant (also known as c.2645C>A), located in coding exon 18 of the BRIP1 gene, results from a C to A substitution at nucleotide position 2645. The alanine at codon 882 is replaced by aspartic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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